What is Sturge-Weber syndrome?

Sturge-Weber syndrome (SWS) is a rare vascular disorder characterized by the association of a facial birthmark called a port-wine birthmark

port-wine birthmark

A port-wine stain (nevus flammeus) is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). They are so named for their coloration, which is similar in color to port wine, a fortified red wine from Portugal.

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Port-wine stain - Wikipedia

, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma.

Is Sturge-Weber syndrome life expectancy?

Sturge Weber syndrome life expectancy

The long-term outlook varies depending on the severity of symptoms, and how well seizures and glaucoma can be controlled or prevented. More severe seizures at an early age are associated with an increased chance for developmental and intellectual disability ⁷⁾.

Is Sturge-Weber syndrome fatal?

Sturge-Weber syndrome is a congenital disorder that affects the skin, the neurological system, and sometimes the eyes. There is no cure, but it is not fatal. Other names include encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.

What is Sturge-Weber syndrome symptoms?

Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma ). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.

What causes Weber's syndrome?

Weber's syndrome is a neurological condition caused by an injury to the midbrain, the uppermost section of the brainstem. It's usually caused by a stroke (infarction), but in rare cases, Weber's syndrome can also be caused by a brain tumor, a traumatic injury, or infection.

sturge-weber syndrome

Is Sturge-Weber syndrome curable?

Sturge-Weber is a lifelong condition that can't be cured. However, treatment of symptoms can help prevent complications and improve your child's quality of life. Seizures: In many cases, seizures can be controlled with anti-seizure medications.

Is Sturge-Weber syndrome treatable?

Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Persons with drug-resistant seizures may be treated by surgical removal of epileptic brain tissue.

What does Sturge mean?

Sturge is a Middle Ages surname of Norse-Viking origins, meaning son of Turgis or Thurgis, Turgeus etc., which meant "Thor's follower".

Is Sturge-Weber syndrome Rare?

Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain.

Why do neurologists ask about birthmarks?

One of the main things that we need to screen for with birthmarks is something called neurocutaneous disorders: “Neuro” for brain and “cutaneous” for skin, meaning that sometimes when birthmarks are present, they may indicate a greater syndrome that could involve the brain.

Is a port-wine stain always Sturge-Weber syndrome?

The birthmark is called a port-wine stain because of its dark red color. Having a port-wine stain doesn't always mean a baby has Sturge-Weber. Most babies born with a port-wine stain on their face do not have Sturge-Weber.

What are port-wine birthmarks?

A port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin. Port wine stains are always present at birth. In an infant, they are flat, pink, vascular lesions. Common locations include the face and neck, but they may be present anywhere on the body.

When was Sturge-Weber syndrome discovered?

The groundbreaking identification of the gene that causes Sturge-Weber syndrome was discovered at the Kennedy Krieger Institute in 2013 by Dr. Anne Comi and her collaborators.

What is Mongolian spot?

Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background.

What are strawberry birthmarks?

Haemangiomas (he-man-gee-omas) are a common type of birthmark that are usually red or purple. They are sometimes called strawberry naevus because of their bright, red strawberry colour. Haemangiomas can occur anywhere (often on the head and neck areas) and develop shortly after birth.

Do port-wine stains run in families?

Port-wine stains can't be prevented. They're not caused by anything a mother did during pregnancy. They may be part of a genetic syndrome, but more often are simply "sporadic," meaning they are not genetically inherited or passed on.

How is Sturge-Weber diagnosed?

Why are babies born with port-wine stains?

It is almost always a birthmark. It is caused by abnormal development of tiny blood vessels. Usually port-wine stains are found from birth in newborn babies. They are formed because the tiny blood vessels (capillaries) in the skin are too big (dilated).

What is a stork bite birthmark?

Sometimes called stork bites or angel kisses, salmon patches are reddish or pink patches. They are often found above the hairline at the back of the neck, on the eyelids or between the eyes. These marks are caused by collections of capillary blood vessels close to the skin.

How many people have Sturge-Weber syndrome?

One estimate places the incidence at 1 in 20,000-50,000 live births. Approximately 3 in 1,000 babies are born with a port-wine birthmark, but only approximately 6% of individuals with a port-wine birthmark on the face develop the neurological abnormalities associated with SWS.

Can a birthmark turn into melanoma?

Different types of birthmarks are made up of different types of cells. Most birthmarks, such as the common port wine stains and strawberry marks, carry no risk of developing into a cancer. But a very rare type, called a giant congenital melanocytic naevus, can develop into a melanoma if it is larger than 20cm.

Can birthmarks cause health problems?

Most birthmarks are harmless and don't require removal. Some birthmarks may cause unease because of their appearance. Other types of birthmarks, such as hemangiomas or moles, may lead to an increased risk for certain medical conditions, such as skin cancer.

What does a brown birthmark mean?

The occurrence of birthmarks may be inherited. Some marks may be similar to marks on other family members, but most are not. Red birthmarks are caused by an overgrowth of blood vessels. Blue or brown birthmarks are caused by pigment cells (melanocytes).

What do birthmarks signify?

Throughout history, birthmarks were feared by superstitious, paranoid, and religious fanatics. But in the present day, many believe birthmarks are lucky omens with special meanings indicating reincarnation, life purpose, or destiny.

Do birthmarks grow hair?

Pigmented Birthmarks

Over time, CMN may darken, thicken or grow hair. One percent of babies are born with a CMN, but so-called “giant” CMN are much less common (1 in 50,000).